ATL3 - atlastin GTPase 3 Gene

Also Known as HSN1F

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 25923

About ATL3

Cytogenetic location: 11q13.1 Genomic coordinates (GRCh38): 11:63,624,087-63,671,974 (from NCBI)

This gene has 4 transcripts (splice variants), 195 orthologues, 10 paralogues and is associated with 2 phenotypes. Ubiquitous expression in fat (RPKM 13.6), thyroid (RPKM 12.0) and 25 other tissues.

Summary

This gene encodes a member of a family of dynamin-like, integral membrane GTPases. The encoded protein is required for the proper formation of the network of interconnected tubules of the endoplasmic reticulum. Mutations in this gene may be associated with hereditary sensory neuropathy type IF. Alternatively spliced transcript variants that encode distinct isoforms have been described. [provided by RefSeq, Feb 2014]

ATL3 Products (2)

mRNA	Protein	Name
NM_001290048.2	NP_001276977.1	atlastin-3 isoform 2
NM_015459.5	NP_056274.3	atlastin-3 isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IDA IDA: Inferred from direct assay	18270207	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	23969831	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in Golgi organization	IMP IMP: Inferred from mutant phenotype	18270207	GOA
involved in endoplasmic reticulum organization	IMP IMP: Inferred from mutant phenotype	18270207	GOA
NOT involved in endoplasmic reticulum to Golgi vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	18270207	GOA
involved in positive regulation of endoplasmic reticulum tubular network organization	IMP IMP: Inferred from mutant phenotype	27619977	GOA
involved in protein homooligomerization	IDA IDA: Inferred from direct assay	18270207	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in endoplasmic reticulum	IDA IDA: Inferred from direct assay	18270207	GOA
located in endoplasmic reticulum tubular network	IDA IDA: Inferred from direct assay	23969831	GOA
located in endoplasmic reticulum tubular network membrane	IDA IDA: Inferred from direct assay	25548161	GOA
located in membrane	IDA IDA: Inferred from direct assay	18270207	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

ATL3 Protein Structure

GBP

GBP_C

0
100
200
300
400
500
541 a.a.

Protein Preferred Names	Protein Names
atlastin-3

ATL3 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ATL3	Q6DD88	ZFYVE27	Homo sapiens	Q5T4F4	Confocal	23969831

Cross: Cross-species interaction Intra: Intraspecies interaction

Recombinant ATL3 Proteins

Cat. No.	Product Name	Accession	Purity
HY-P75497	ATL3 Protein, Human (His)	Q6DD88 (M1-A445)	≥ 95%, as determined by reducing SDS-PAGE.

ATL3 Antibodies

Cat. No.	Product Name	Application	Reactivity
HY-P86776	ATL3 Antibody (YA6469)	WB, ICC/IF, IHC-P, FC	Human, Mouse, Rat, Monkey

Related Diseases

Diseases	Alias
Neuropathy, Hereditary Sensory, Type If	HSN1F Hsn If Hereditary Sensory Neuropathy Type 1f Hereditary Sensory Neuropathy Type If Neuropathy, Hereditary Sensory, Type 1f Neuropathy, Hereditary Sensory, 1f Neuropathy, Sensory, Hereditary, Type If
Hereditary Sensory And Autonomic Neuropathy Type 1	Hereditary Sensory And Autonomic Neuropathy Type I Hereditary Sensory Neuropathy-Deafness-Dementia Syndrome Hsan1e Hsan1 Dnmt1-Related Dementia, Deafness, And Sensory Neuropathy Hsn1e Hsnie Hereditary Sensory Neuropathy Type Ie Hereditary Sensory Neuropathy-Sensorineural Hearing Loss-Dementia Syndrome Hereditary Sensory And Autonomic Neuropathy Type Ie Hereditary Sensory And Autonomic Neuropathy Type 1e Hereditary Sensory Neuropathy With Hearing Loss And Dementia Dnmt1-Complex Disorder Hereditary Sensory And Autonomic Neuropathy Type 1 With Dementia And Hearing Loss Hsn Ie Hereditary Sensory Autonomic Neuropathy, Type 1 Hsan1- [Hereditary Sensory And Autonomic Neuropathy Type I]
Hereditary Sensory Neuropathy	Hereditary Sensory And Autonomic Neuropathy Hereditary Sensory And Autonomic Neuropathies Familial Dysautonomia, Type Ii Hsan Sensory Neuropathy Hereditary Neuropathy, Sensory And Autonomic, Hereditary Neuropathy, Sensory, Hereditary Sensory Neuropathy, Hereditary Charcot-Marie-Tooth Disease Cmt - [Charcot-Marie-Tooth Disease]
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Neuropathy, Hereditary Sensory And Autonomic, Type Viii	HSAN8 Hsan Viii Hereditary Sensory And Autonomic Neuropathy Type 8 Hereditary Sensory And Autonomic Neuropathy Type Viii Neuropathy, Hereditary Sensory And Autonomic, 8 Neuropathy, Sensory And Autonomic, Hereditary, Type Viii
Spastic Paraplegia 3a	Spg3a Atl1-Hsp Spastic Paraplegia Type 3a Spastic Paraplegia 3 Spastic Paraplegia 3, Autosomal Dominant
Chromosome Xp11.22 Duplication Syndrome	Mrx17 Mental Retardation, X-Linked 31 Mrx31 Xp11.22 Microduplication Syndrome X-Linked Mental Retardation 31 Mental Retardation, X-Linked 17
Neuropathy, Hereditary Sensory And Autonomic, Type Vii	Hereditary Sensory And Autonomic Neuropathy Type 7 HSAN7 Hereditary Sensory And Autonomic Neuropathy Type Vii Hsan Vii Cip With Hyperhidrosis And Gastrointestinal Dysfunction Congenital Insensitivity To Pain With Hyperhidrosis And Gastrointestinal Dysfunction Hsan With Hyperhidrosis And Gastrointestinal Dysfunction Hereditary Sensory And Autonomic Neuropathy With Hyperhidrosis And Gastrointestinal Dysfunction Insensitivity To Pain, Congenital, With Gastrointestinal Dysfunction And Hyperhidrosis Neuropathy, Hereditary Sensory And Autonomic, 7 Congenital Insensitivity To Pain With Gastrointestinal Dysfunction And Hyperhidrosis Neuropathy, Sensory And Autonomic, Hereditary, Type Vii
Neuropathy, Hereditary Sensory And Autonomic, Type Vi	Hereditary Sensory And Autonomic Neuropathy Type 6 HSAN6 Hsan Vi Hereditary Sensory And Autonomic Neuropathy Type Vi Familial Dysautonomia With Contractures Neuropathy, Hereditary Sensory And Autonomic, 6 Hereditary Sensory Neuropathy Type Vi Hsn Vi Neuropathy, Sensory And Autonomic, Hereditary, Type Vi
Neuropathy, Hereditary Sensory And Autonomic, Type V	HSAN5 Hereditary Sensory And Autonomic Neuropathy Type V Hsan V Hereditary Sensory And Autonomic Neuropathy Type 5 Congenital Insensitivity To Pain Congenital Sensory Neuropathy With Selective Loss Of Small Myelinated Fibers Hsan Type V Insensitivity To Pain, Congenital Hereditary Sensory And Autonomic Neuropathy, Type 5 Congenital Insensitivity To Pain And Thermal Analgesia Neuropathy, Hereditary Sensory And Autonomic, 5 Hereditary Sensory Neuropathy Type V Hsn V Pain Insensitivity, Congenital Neuropathy, Sensory And Autonomic, Hereditary, Type V Hereditary Sensory Autonomic Neuropathy, Type 5 Hsan5 - [Hereditary Sensory And Autonomic Neuropathy Type 5]
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Non-Syndromic X-Linked Intellectual Disability	X-Linked Non-Syndromic Intellectual Disability Non-Specific X-Linked Mental Retardation X-Linked Non-Specific Intellectual Disability

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS01159	ATL3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS18910	Atl3 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25401	Atl3 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	ATL3	MGD	MGI:1924270
Canis familiaris	ATL3	VGNC	VGNC:38232
Macaca mulatta	ATL3	VGNC	VGNC:70125
Rattus norvegicus	ATL3	RGD	RGD:1309871
Bos taurus	ATL3	VGNC	VGNC:26267
Felis catus	ATL3	VGNC	VGNC:60010
Others	ATL3	NCBI